A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572338



Internal ID18353850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:155265120..155290368hg38UCSC Ensembl
Innerchr7:155056830..155082078hg19UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg3825249
hg1925249
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2006e212
Supporting Variantsessv9786368, essv9786369, essv9786370
Samples401437MJ, 400110MD, 401778CB
Known Genes
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3572338
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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